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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-198703360-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=198703360&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTPRC",
"hgnc_id": 9666,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002838.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.079,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07190611958503723,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 787,
"cds_end": null,
"cds_length": 3921,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002838.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000442510.8",
"protein_coding": true,
"protein_id": "NP_002829.3",
"strand": true,
"transcript": "NM_002838.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 787,
"cds_end": null,
"cds_length": 3921,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000442510.8",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002838.5",
"protein_coding": true,
"protein_id": "ENSP00000411355.3",
"strand": true,
"transcript": "ENST00000442510.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6812,
"cdna_start": 376,
"cds_end": null,
"cds_length": 3438,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000348564.12",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306782.7",
"strand": true,
"transcript": "ENST00000348564.12",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1800,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000530727.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433536.2",
"strand": true,
"transcript": "ENST00000530727.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000462363.6",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "n.412A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462363.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000529828.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "n.502A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469141.1",
"strand": true,
"transcript": "ENST00000529828.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 447,
"cds_end": null,
"cds_length": 3636,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000697631.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Thr121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513363.1",
"strand": true,
"transcript": "ENST00000697631.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "T",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 409,
"cds_end": null,
"cds_length": 3441,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970625.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640684.1",
"strand": true,
"transcript": "ENST00000970625.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 304,
"cds_end": null,
"cds_length": 3438,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_080921.4",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_563578.2",
"strand": true,
"transcript": "NM_080921.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 273,
"cds_end": null,
"cds_length": 3438,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908298.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578357.1",
"strand": true,
"transcript": "ENST00000908298.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6738,
"cdna_start": 298,
"cds_end": null,
"cds_length": 3438,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970623.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640682.1",
"strand": true,
"transcript": "ENST00000970623.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 300,
"cds_end": null,
"cds_length": 3438,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970624.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640683.1",
"strand": true,
"transcript": "ENST00000970624.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4547,
"cdna_start": 252,
"cds_end": null,
"cds_length": 3438,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970626.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640685.1",
"strand": true,
"transcript": "ENST00000970626.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1099,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 249,
"cds_end": null,
"cds_length": 3300,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908299.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578358.1",
"strand": true,
"transcript": "ENST00000908299.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 734,
"aa_ref": "T",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 534,
"cds_end": null,
"cds_length": 2205,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367367.8",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Thr150Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356337.5",
"strand": true,
"transcript": "ENST00000367367.8",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 160,
"aa_ref": "T",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 592,
"cdna_start": 411,
"cds_end": null,
"cds_length": 485,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643513.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494132.1",
"strand": true,
"transcript": "ENST00000643513.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 150,
"aa_ref": "T",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": 562,
"cds_end": null,
"cds_length": 453,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000645247.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Thr143Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494327.1",
"strand": true,
"transcript": "ENST00000645247.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 147,
"aa_ref": "T",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 731,
"cdna_start": 448,
"cds_end": null,
"cds_length": 446,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000367379.6",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356349.2",
"strand": true,
"transcript": "ENST00000367379.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 763,
"cds_end": null,
"cds_length": 3921,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426381.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282337.1",
"strand": true,
"transcript": "XM_047426381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "T",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5213,
"cdna_start": 643,
"cds_end": null,
"cds_length": 3777,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006711472.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.502A>G",
"hgvs_p": "p.Thr168Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711535.1",
"strand": true,
"transcript": "XM_006711472.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "T",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": 589,
"cds_end": null,
"cds_length": 3723,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006711473.4",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Thr150Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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